What is hypercholesterolemia?

Hypercholesterolemia, or excess cholesterol, seriously damages health. A balanced diet and regular exercise help control cholesterol levels and prevent other associated risk factors.

Hypercholesterolemia is the elevated blood cholesterol levels above 200 mg/dl, as a universally accepted figure currently based on the risk of cardiovascular consequences above them.

Cholesterol is necessary for the development and operation of certain hormones and certain components of cells. It needs to travel within the lipoproteins in the bloodstream since, being a fatty substance, it is not soluble in aqueous media. These lipoproteins are what we know as HDL, LDL, or VLDL.

Cholesterol that travels in HDL is considered ” good ” because it goes to the liver to expel fat through the bile and later in the stool. It helps, therefore, to eliminate excess cholesterol from the cells of the body. The “bad” cholesterol or LDL is directed towards the arteries to form the atheroma plaques that can impede them and cause irrigation deficits.

In general, dyslipidemia is known as those blood alterations in the levels of cholesterol, lipoproteins, or triglycerides; when they are well defined, they are called hypercholesterolemia (if it is an exclusive elevation of cholesterol) or hypertriglyceridemia (when the elevation is in triglycerides).

There is extensive knowledge about the direct relationship between hypercholesterolemia and cardiovascular disease, specifically LDL or bad cholesterol.

Likewise, there is evidence to affirm that HDL cholesterol is protective against these types of diseases. In Spain, for example, more than half of the population over 30 years of age has total cholesterol levels above 200 mg/dl. In Asia, on the other hand, their prevalence is much lower due to the type of diet they follow.

Elevated cholesterol levels reflect the negative impact of a sedentary lifestyle, excess body weight, and diets rich in total and saturated fats. It is, therefore, a modifiable risk factor, and therefore, a cause of preventable cardiovascular disease and death.

Hence, programs to educate the population on reducing cholesterol levels by modifying unhealthy lifestyles have been promoted in recent decades. The follow-up of an adequate pharmacological treatment prescribed by the doctor in the cases in which it is necessary.

On the other hand, familial hypercholesterolemia is known as familial hypercholesterolemia, not dependent on lifestyle habits but linked to the mutation of some genes, and therefore less elastic. However, an early diagnosis will help reduce its complications.

Types of hypercholesterolemia

There are two types of hypercholesterolemia, depending on the origin or cause that produces it:

• Primary hypercholesterolemia: No obvious cause is found or is related to genetic factors or alterations in the transport of cholesterol in the blood, where environmental factors (diet, sedentary life, etc.) also influence.
• Secondary hypercholesterolemia: this hypercholesterolemia account for 20% or less of hyperlipemias. The increase in cholesterol levels is associated with liver diseases, such as hepatitis, cholestasis, cirrhosis, endocrine, diabetes mellitus, and hypothyroidism; and kidney nephrotic syndrome or chronic kidney failure. This also includes substances that increase blood cholesterol levels, such as progestogens, glucocorticoids, and beta-blockers.

Severe forms of hypercholesterolemia

Familial hypercholesterolemia (FH) is an autosomal dominant inherited disease – that is, you only need to inherit the defective gene from one parent to suffer from the disease – due to more than 700 mutations that affect the LDL-cholesterol receptor gene ( or bad cholesterol ).

It affects 50% of the offspring. The altered gene is located on chromosome 19 and is the most common monogenic disease of the human species, with an approximate prevalence of one affected per 500 healthy subjects (0.2%).

Patients with familial hypercholesterolemia have LDL cholesterol levels double-triple those observed in the general population, ranging between 190 and 400mg / dL, while triglycerides are generally in normal values. In some cases, they could be elevated.

The natural history of familial hypercholesterolemia is closely linked to the development of cardiovascular disease. The main cause of death in these patients is ischemic heart disease:

• 50% of women and 85% of untreated men will suffer a coronary event before 65.
• The risk of coronary heart disease is 100 times more frequent in the population aged 20-39 years with FH.
• In some countries, it has been responsible for 10% of cases of early coronary artery disease. It is not uncommon for severe atherosclerosis to appear in youth or middle age.
• It is not associated with high blood pressure, obesity, and diabetes. Coronary heart disease develops in males by age 40 or earlier.
• The value and extent of the remaining classic cardiovascular risk factors are not comparable to that of the general population.